ArticleNature genetics2018
Genome-wide mapping of global-to-local genetic effects on human facial shape.
Article in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 132 papers, 5 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
132 citing papers in PubMed, 5 syntheses or guidelines pooled it, 238 citations in OpenAlex.
- Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.Pediatric research · 2024Pooled it
- Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci.PLoS genetics · 2023Pooled it
- Advancement in Human Face Prediction Using DNA.Genes · 2023Pooled it
- Genetic factors contributing to skeletal class III malocclusion: a systematic review and meta-analysis.Clinical oral investigations · 2021Pooled it
- Pooled it
- Atlas of cell types and regulatory elements underlying human facial diversity.Nature genetics · 2026Article
- Multi-modal AI-enabled steatotic liver disease diagnostics using facial images and metabolomics.Cell reports. Medicine · 2026Article
- Vertical Growth of Facial Soft Tissues: A Longitudinal Three-Dimensional Facial Growth Study.Orthodontics & craniofacial research · 2026Article
- Transverse Growth of Facial Soft Tissues: A Longitudinal Three-Dimensional Facial Growth Study.Orthodontics & craniofacial research · 2026Article
- Linked genetic loci and genotype-dependent temperature effects shape craniofacial morphology in medaka.G3 (Bethesda, Md.) · 2026Article
- Neural crest gene regulatory networks as drivers of development, diversification and disease.Nature reviews. Molecular cell biology · 2026Review
- Automated artificial intelligence-driven 3-dimensional craniofacial superimposition for clinically useful treatment outcomes in growing patients: A multicenter study.American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics · 2026Article
- Cis-regulatory evolution shapes facial diversity in birds and mammals.Science advances · 2026Article
- Measuring sexual dimorphism in human faces.Journal of anatomy · 2026Article
- Clusters in craniofacial microsomia and microtia according to facial morphology and craniofacial anomalies.European journal of pediatrics · 2026Article
- Genome-wide associations of leaf spectral variation in MAGIC lines of Nicotiana attenuata.Ecology · 2026Article
- Gene expression dynamics of human and mouse craniofacial development at the single-cell level.Nature communications · 2026Article
- Leveraging the genetics of human face shape boosts the discovery of orofacial cleft risk loci.medRxiv : the preprint server for health sciences · 2026Article
- The craniofacial shape of modern humans embodies genomic signatures of evolution, diversity, and clinical conditions.bioRxiv : the preprint server for biology · 2026Article
- Genetic architecture of craniofacial morphogenesis: roles ofFrontiers in cell and developmental biology · 2026Review
72 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 5 institutions in 3 countries.
Funding
Abstract
Genome-wide association scans of complex multipartite traits like the human face typically use preselected phenotypic measures. Here we report a data-driven approach to phenotyping facial shape at multiple levels of organization, allowing for an open-ended description of facial variation while preserving statistical power. In a sample of 2,329 persons of European ancestry, we identified 38 loci, 15 of which replicated in an independent European sample (n = 1,719). Four loci were completely new. For the others, additional support (n = 9) or pleiotropic effects (n = 2) were found in the literature, but the results reported here were further refined. All 15 replicated loci highlighted distinctive patterns of global-to-local genetic effects on facial shape and showed enrichment for active chromatin elements in human cranial neural crest cells, suggesting an early developmental origin of the facial variation captured. These results have implications for studies of facial genetics and other complex morphological traits.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.